Varaico: Literature-Extracted Genetic Variants

RET

5,388 papers

RefSeq Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related...

Pfam Domains

RET_CLD1aa 29–154UCSCRET Cadherin like domain 1

Cadherinaa 172–261UCSCCadherin domain

RET_CLD3aa 265–379UCSCRET Cadherin like domain 3

RET_CLD4aa 282–375UCSCRET Cadherin like domain 4

RET_CLD4aa 404–507UCSCRET Cadherin like domain 4

RET_CRDaa 518–620UCSCRET, Cysteine Rich Domain

Gene Aliases

HGNC Name

ret proto-oncogene

HGNC Previous Symbols

HSCR1; MEN2A; MTC1; MEN2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020975.6

p.I638delFs

c.1914delC

Surrounding Variants

1 paper

NM_020975.6

p.I638fs

c.1912_1913fs

1 paper

NM_020975.6

p.I638V

c.1912A>G

2 papers

NM_020975.6

p.I638M

c.1914C>G

7 papers

NM_020975.6

p.A639T

c.1915G>A

1 paper

NM_020975.6

p.A639fs

c.1915_1916fs

1 paper

NM_020975.6

p.V637V

c.1911G>T

8 papers

NM_020975.6

p.A639G

c.1916C>G

1 paper

NM_020975.6

p.V637A

c.1910T>C

2 papers

NM_020975.6

p.I638_A640delFs

c.1912_1918del7

3 papers

NM_020975.6

p.V637M

c.1909G>A

1 paper

NM_020975.6

p.V637fs

c.1909_1910fs

1 paper

NM_020975.6

p.T636T

c.1908G>A